Allele Registry

Canonical Allele Identifier: PA2828059721

Gene: TSC1 HGNC NCBI

ClinVar Allele:

459111

ClinVar RCV:

RCV000534300

RCV001195754

RCV001545105

RCV002257807

RCV003999189

ClinVar Variation:

466025

HGVS (amino-acid)	Matching Registered Transcripts
NP_001349106.1:p.Gly322Val	CA375366083 NM_001362177.1:c.965G>T